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AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED (CUI C2751492) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C2751492

Semantic Type: Disease or Syndrome

GARD Definition: 

Familial transthyretin amyloidosis is a slowly progressive condition characterized by the buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the body's organs and tissues. Amyloid deposits in the nerves of the peripheral nervous system result in a loss of sensation in the extremities (peripheral neuropathy). The autonomic nervous system (which controls involuntary body functions such as blood pressure, heart rate, and digestion) as well as the central nervous system (brain and spinal cord) may also be affected. Other areas of the body affected include the heart, kidneys, eyes, and gastrointestinal tract. The age at which symptoms develop varies widely among affected individuals, and may be between ages 20 and 70 years. Mutations in the TTR gene cause the condition. Although it is inherited in an autosomal dominant pattern, not all people who have a TTR gene mutation will develop familial transthyretin amyloidosis.

There are three major forms of familial transthyretin amyloidosis, which are distinguished by their symptoms and the body systems they affect. The neuropathic form of transthyretin amyloidosis primarily affects the peripheral and autonomic nervous systems, resulting in peripheral neuropathy and difficulty controlling bodily functions. The leptomeningeal form of transthyretin amyloidosis primarily affects the central nervous system. The cardiac form of transthyretin amyloidosis affects the heart. To read more about the different forms of familial transthyretin amyloidosis, click here.

- this information is from GARD/ORDR/NCATS.

Synonyms & Abbreviations: (see Synonym Details)
AMYLOID POLYNEUROPATHY, FAMILIAL
Amyloidosis Transthyretin related
Amyloidosis, hereditary, transthyretin-related
Familial amyloid polyneuropathy
Familial transthyretin amyloidosis
Familial Transthyretin Cardiac Amyloidosis
FAP
Hereditary Amyloidosis, Transthyretin-Related
Transthyretin amyloid neuropathy
Transthyretin amyloid polyneuropathy
Transthyretin amyloidosis
TTR amyloid neuropathy

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DISEASE_IDENTIFIER_ID 34270 GARD
DISEASE_IDENTIFIER_ID 34271 GARD
DISEASE_IDENTIFIER_ID 34272 GARD
DISEASE_IDENTIFIER_ID 34273 GARD
DISEASE_IDENTIFIER_ID 6987 GARD
DISEASE_IDENTIFIER_ID 6988 GARD
DISEASE_IDENTIFIER_ID 6989 GARD
DISEASE_IDENTIFIER_ID 6990 GARD
DISEASE_IDENTIFIER_ID 6991 GARD
DISEASE_IDENTIFIER_ID 6992 GARD
DISEASE_IDENTIFIER_ID 6993 GARD
FR 169 MSH
GENELOCUS ,1,8,q,1,1,.,2,-,q,1,2,.,1, OMIM
GENESYMBOL PALB OMIM
GENESYMBOL TTR OMIM
HAS_GARD_PAGE true GARD
HM D028227 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 20121105 MSH
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20150817 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/656/familial-transthyretin-amyloidosis/resources/1 GARD
RN 0 MSH
SC 3 MSH
SOS Hereditary disorder characterized by AMYLOID DEPOSITS in the EXTRACELLULAR MATRIX of different tissues. Patients present POLYNEUROPATHY; CARPAL TUNNEL SYNDROME, autonomic insufficiency, CARDIOMYOPATHY, and gastrointestinal symptoms. A dominant mutation (V30M) in the TTR gene has been identified. OMIM: 105210 MSH
TERMUI T000867056 MSH
TERMUI T811060 MSH
TERMUI T811061 MSH
TERMUI T811063 MSH
TH GHR (2014) MSH
TH NLM (2014) MSH
TH OMIM (2013) MSH

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C2751492

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